نتایج جستجو برای: glutaric aciduria

تعداد نتایج: 1568  

Journal: :Journal of Inherited Metabolic Disease 1999

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Journal: :Developmental Medicine & Child Neurology 2009

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Journal: :Brain 2006

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Journal: :Archives of Disease in Childhood 2000

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Journal: :Archives of disease in childhood 1990
I G Verber M Bain

A 3 year old boy who had glutaric aciduria diagnosed at 22 months of age was admitted with a history of lethargy, vomiting, and fever. He had been receiving glucose polymers as part of his dietary management. He was severely hypernatraemic, but after resuscitation and rehydration made a good recovery. The possible aetiology of his hypernatraemia is discussed.

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Journal: :Indian Journal of Radiology and Imaging 2006

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Journal: :Indian journal of pediatrics 2011
Inderneel Sahai Thomas Zytkowicz Srimannarayna Rao Kotthuri Anantha Lakshmi Kotthuri Roger B Eaton Radha Rama Devi Akella

OBJECTIVE To estimate the prevalence of the Inborn Errors of Metabolism (IEM), evaluate biomarker distributions and determine benefits of screening for the inborn errors of metabolism in Andhra Pradesh, India, using Tandem Mass Spectrometry (MS/MS). METHODS The 4,946 newborns born during the period 2006-2008 in four major Government Maternity Hospitals in a rural district in Andhra Pradesh, I...

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Journal: : 2022

Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency, glutaric acidemia 1) (OMIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding enzyme glutaryl-CoA (GCDH). Glutaryl-CoA (GCDH) plays important role degradation metabolism of L-lysine, L-hydroxylysine and L-tryptophan. The insufficiency or absence leads to accumulation by-products such amino acids as ...

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Journal: :Journal of Medical Genetics 2000

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Journal: :Pediatric Neurology Briefs 2001

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